MFS
MCID: MRF001
MIFTS: 83

Marfan Syndrome (MFS) malady

Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases, Nephrological diseases categories

Summaries for Marfan Syndrome

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MedlinePlus:35 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Marfan Syndrome, also known as marfan's syndrome, is related to aneurysm and aortic aneurysm, and has symptoms including abnormal dentition/dental position/implantation/unerupted/dental ankylosis, aortic dissection and endocardium anomalies/fibroelastosis/endocarditis. An important gene associated with Marfan Syndrome is FBN1 (fibrillin 1), and among its related pathways are Elastic fibre formation and Validated transcriptional targets of AP1 family members Fra1 and Fra2. The compounds taad and desmosine have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and lung, and related mouse phenotypes are integument and respiratory system.

Genetics Home Reference:22 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases:44 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). last updated: 2/25/2011

Wikipedia:66 Marfan syndrome (also called Marfan\'s syndrome) is a genetic disorder of human connective tissue. It... more...

Description from OMIM:48 154700,610168

GeneReviews summary for marfan

Aliases & Classifications for Marfan Syndrome

About this section
Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 28ICD9CM, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age
marfan syndrome type 1:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

marfan syndrome 9 10 66 20 44 22 48 11 46 50 35 63
marfan's syndrome 9 21 23 22
arachnodactyly 66 46 63
mfs 66 22 50
marfan syndrome type 1 44 50
marfanoid hypermobility syndrome 63
contractural arachnodactyly 44
maple syrup urine disease 63
mfs1 50


External Ids:

Disease Ontology9 DOID:14323
ICD9CM28 759.82
MeSH36 D008382
NCIt41 C34807
MESH via Orphanet37 D008382
ICD10 via Orphanet27 Q87.4
SNOMED-CT via Orphanet60 19346006
UMLS via Orphanet64 C0024796
ICD1026 Q87.4

Related Diseases for Marfan Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 286)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.3TGFBR2, ELN, FBN1
2aortic aneurysm31.0FBN1, TGFBR1, TGFBR2
3aortic disease30.9FBN1
4thoracic aortic aneurysm30.7ELN, TGFBR2, FBN1
5loeys-dietz syndrome30.5TGFBR2, FBN1, TGFBR1
6glaucoma30.4FBN1, ELN
7vascular disease30.1TGFBR1, DCN, ELN
8cutis laxa30.1ELN, FBN1
9pseudoxanthoma elasticum30.0FBN1, ELN
10hyperhomocysteinemia30.0ELN, FBN1
11osteogenesis imperfecta30.0COL1A2, DCN
12glomerulosclerosis30.0COL1A2, DCN
13abdominal aortic aneurysm30.0FBN1, DCN, ELN
14atherosclerosis29.9FBN1, DCN, ELN
15connective tissue disease29.9ELN, FBN1, COL1A2, TGFBR2
16congenital heart disease29.8FBN1, DCN, ELN
17mental retardation29.8ELN, TGFBR2, FBN1
18neonatal marfan syndrome10.8
19congenital contractural arachnodactyly10.4
20myelofibrosis10.4
21mitral valve prolapse10.4
22mycosis fungoides10.4
23meningocele10.3
24congenital contractures10.3
25subclavian artery aneurysm10.3
26intracranial hypotension10.3
27periodontitis10.3
28pneumothorax10.3
29polycythemia vera10.3
30polycythemia10.3
31essential thrombocythemia10.3
32down syndrome10.3
33pulmonary emphysema10.3
34schizophrenia10.3
35dissecting aortic aneurysm10.3
36takayasu's arteritis10.2
37polycystic kidney disease10.2
38hypertension10.2
39kidney disease10.2
40loeys-dietz syndrome type 2b10.2
41endotheliitis10.2
42mandibulofacial dysostosis with microcephaly10.2
43blepharophimosis10.2
44al gazali syndrome10.2
45arachnodactyly - intellectual disability - dysmorphism10.2
46neurofibromatosis10.1
47renovascular hypertension10.1
48lens subluxation10.1
49cervicitis10.1
50migraine10.1

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Symptoms for Marfan Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700,610168

Symptoms:

50 (show all 48)
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • aortic dissection
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • thoracic/chest pain
  • inguinal/inguinoscrotal/crural hernia
  • kyphosis
  • heart/cardiac failure
  • arterial rupture
  • meningocele
  • hyperactivity/attention deficit
  • myalgia/muscular pain
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • sprain/twisted joint
  • autosomal dominant inheritance
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • retinal detachment
  • lens dislocation/luxation/subluxation/ectopia lentis
  • visual loss/blindness/amblyopia
  • dental malocclusion
  • flat cheek bones/malar hypoplasia
  • narrow face
  • asthenia/fatigue/weakness
  • marfanoid morphotype
  • tall stature/gigantism/growth acceleration
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hypotonia
  • aortic root dilatation/dilation/aneurysm
  • striae
  • flat foot
  • long hand/arachnodactyly
  • myopia
  • high vaulted/narrow palate
  • flat cornea
  • glaucoma
  • micrognathia/retrognathia/micrognathism/retrognathism
  • dolichocephaly/scaphocephaly
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • hyperextensible joints/articular hyperlaxity
  • articular/joint pain/arthralgia
  • sleep and vigilance disorders
  • dural ectasia/
  • arterial aneurism (excluding aorta)
  • coxa profunda/acetabular protrusion
  • scoliosis
  • pectus excavatum
  • long limbs/dolichostenomelia

Drugs & Therapeutics for Marfan Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Marfan Syndrome

Drug clinical trials:

Search ClinicalTrials for Marfan Syndrome

Search NIH Clinical Center for Marfan Syndrome

Search CenterWatch for Marfan Syndrome

Genetic Tests for Marfan Syndrome

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome21 FBN1
2 Marfan's Syndrome23

Anatomical Context for Marfan Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Marfan Syndrome:

34
Heart, Eye, Lung, Bone, Skin, Testes, Spinal cord, Smooth muscle, Kidney, Endothelial, Colon, Spleen, Thyroid, Placenta

Animal Models for Marfan Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Marfan Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2COL1A2, TGFBR1, DCN, FBN1
2MP:00053887.9ELN, TGFBR2, TGFBR1, FBN1, DCN
3MP:00053847.6COL1A2, TGFBR2, TGFBR1, DCN, FBN1
4MP:00053857.6COL1A2, FBN1, TGFBR1, TGFBR2, ELN
5MP:00053787.5TGFBR1, COL1A2, TGFBR2, FBN1, DCN
6MP:00053767.4FBN1, ELN, TGFBR2, TGFBR1, DCN
7MP:00053697.3DCN, FBN1, TGFBR1, TGFBR2, ELN, COL1A2
8MP:00053907.3FBN1, DCN, TGFBR1, TGFBR2, ELN, COL1A2
9MP:00107687.2TGFBR2, FBN1, DCN, TGFBR1, COL1A2, ELN

Publications for Marfan Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Marfan Syndrome:

(show top 50)    (show all 724)
idTitleAuthorsYear
1
Retrospective analysis of the effect of angiotensin II receptor blocker versus I^-blocker on aortic root growth in paediatric patients with Marfan syndrome. (24270746)
2014
2
MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome. (23000269)
2013
3
Down syndrome masked by Marfan syndrome in a neonate. (23483062)
2013
4
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. (23100322)
2013
5
The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome. (23110520)
2013
6
Endovascular treatment for type B dissection in Marfan syndrome: is it worthwhile? (23273625)
2013
7
Marfan syndrome: a review of the literature and case report. (23980558)
2013
8
First report of the genetic background of Marfan syndrome in two Polish patients. (24162367)
2013
9
A descriptive study of ocular characteristics in Marfan syndrome. (23387925)
2013
10
Marfan syndrome with spontaneous rupture of aneurysm of common iliac artery. (23778730)
2013
11
Outcomes after valve-preserving root surgery for patients with Marfan syndrome. (23167226)
2012
12
Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma. (22034023)
2012
13
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. (21907952)
2011
14
Dissecting aortic aneurysm with Marfan syndrome. (21317477)
2011
15
Echocardiographic findings in children with Marfan syndrome. (21161115)
2011
16
Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis. (21344640)
2011
17
Comparison of aortic dissection in Chinese patients with and without Marfan syndrome. (21273360)
2011
18
Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysis. (21228428)
2011
19
The Marfan syndrome - features, natural history and treatment options - our experiences. (21617273)
2011
20
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. (21332468)
2011
21
Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome. (20189193)
2010
22
Large pulmonary artery aneurysm associated with Marfan syndrome. (22477577)
2010
23
Aortic valve sparing procedure combined with sternal turnover for Marfan syndrome. (20678110)
2010
24
Screening of FBN1 gene mutations in a family with Marfan syndrome]. (21211293)
2010
25
Marfan syndrome and schizophrenia: a case report and literature review. (20303004)
2010
26
Outcomes of iris-claw anterior chamber versus iris-fixated foldable intraocular lens in subluxated lens secondary to Marfan syndrome. (20466427)
2010
27
Frequency of sleep apnea in adults with the Marfan syndrome. (20538140)
2010
28
External aortic root support for Marfan syndrome. (21127328)
2010
29
May TGFBR1 act also as low penetrance allele in Marfan syndrome? (17936924)
2009
30
Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. (19361604)
2009
31
Increased prevalence of migraine in Marfan syndrome. (18678417)
2009
32
Marfan syndrome: a study of a Nigerian family and review of current cardiovascular management. (19662746)
2009
33
Chest pain in Marfan syndrome. (21686816)
2009
34
Bilateral radial artery aneurysms in the anatomical snuff box seen in marfan syndrome patient: case report and literature review. (23555380)
2009
35
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease. (18795226)
2008
36
Fatal aortic dissection in a patient with a family history of Marfan syndrome. (18669769)
2008
37
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. (17663468)
2007
38
Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. (17911499)
2007
39
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (16791849)
2006
40
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. (15704038)
2005
41
Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. (15837284)
2005
42
Plain radiography of the lumbosacral spine in Marfan syndrome. (14589463)
2002
43
Popliteal pterygium associated with neonatal Marfan syndrome: case report. (11446416)
2001
44
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome. (10686496)
2000
45
Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene. (10441700)
1999
46
A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS). (10694921)
1998
47
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. (8946175)
1996
48
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. (8541880)
1995
49
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. (8533811)
1995
50
Anterior sacral meningocele and Marfan syndrome: a review. (8470436)
1993

Variations for Marfan Syndrome

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

65 (show all 225)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Asn1131TyrVAR_002313rs137854473
36FBN1p.Arg1137ProVAR_002314rs137854456
37FBN1p.Cys1153TyrVAR_002316rs140599
38FBN1p.Asp1155AsnVAR_002317
39FBN1p.Arg1170HisVAR_002318rs137854475
40FBN1p.Cys1171TrpVAR_002319
41FBN1p.Asn1173LysVAR_002320
42FBN1p.Cys1223TyrVAR_002321rs137854469
43FBN1p.Cys1242TyrVAR_002322rs137854471
44FBN1p.Cys1249SerVAR_002323rs137854458
45FBN1p.Asn1382SerVAR_002324
46FBN1p.Asp1404TyrVAR_002325
47FBN1p.Cys1513ArgVAR_002326
48FBN1p.Cys1589PheVAR_002327
49FBN1p.Cys1610GlyVAR_002328
50FBN1p.Cys1663ArgVAR_002329rs137854459
51FBN1p.Pro1837SerVAR_002330
52FBN1p.Asn1893LysVAR_002331
53FBN1p.Cys1928ArgVAR_002332
54FBN1p.Cys2099TrpVAR_002333
55FBN1p.Cys2111TyrVAR_002334
56FBN1p.Asp2127GluVAR_002335
57FBN1p.Asn2144SerVAR_002336rs137854461
58FBN1p.Cys2151TrpVAR_002337
59FBN1p.Cys2221SerVAR_002338rs137854460
60FBN1p.Cys2258ArgVAR_002339
61FBN1p.Arg2282TrpVAR_002340
62FBN1p.Cys2307SerVAR_002341rs137854457
63FBN1p.Cys2489ArgVAR_002343
64FBN1p.Cys2511ArgVAR_002344
65FBN1p.His2623ProVAR_002345
66FBN1p.Gly2627ArgVAR_002346
67FBN1p.Arg2680CysVAR_002347
68FBN1p.Arg2726TrpVAR_002348rs61746008
69FBN1p.Cys504PheVAR_010776
70FBN1p.Cys1129TyrVAR_010777rs137854482
71FBN1p.Tyr1261CysVAR_010778
72FBN1p.Cys1833SerVAR_010779
73FBN1p.Cys2142TyrVAR_010780
74FBN1p.Arg62CysVAR_017967rs25403
75FBN1p.Cys89PheVAR_017968rs112660651
76FBN1p.Arg114CysVAR_017969
77FBN1p.Cys154SerVAR_017971
78FBN1p.Arg240CysVAR_017972rs137854480
79FBN1p.Trp366CysVAR_017973
80FBN1p.Gly560SerVAR_017974
81FBN1p.Cys570TyrVAR_017975
82FBN1p.Gly592AspVAR_017976
83FBN1p.Cys596TyrVAR_017977
84FBN1p.Cys598TrpVAR_017978
85FBN1p.Cys652SerVAR_017979
86FBN1p.Asp654AsnVAR_017980
87FBN1p.Ser681TyrVAR_017982
88FBN1p.Cys683ArgVAR_017983
89FBN1p.Cys685TrpVAR_017984rs140603
90FBN1p.Asp723ValVAR_017985
91FBN1p.Cys734PheVAR_017986
92FBN1p.Cys748TyrVAR_017987
93FBN1p.Cys776GlyVAR_017988
94FBN1p.Cys776TyrVAR_017989
95FBN1p.Cys781ArgVAR_017990
96FBN1p.Cys816SerVAR_017991
97FBN1p.Cys890ArgVAR_017992
98FBN1p.Cys908ArgVAR_017993
99FBN1p.Glu913GlyVAR_017994
100FBN1p.Cys921GlyVAR_017995
101FBN1p.Gly985ArgVAR_017996
102FBN1p.Cys1044TyrVAR_017997
103FBN1p.Cys1055TrpVAR_017998
104FBN1p.Cys1055TyrVAR_017999
105FBN1p.Tyr1101CysVAR_018000
106FBN1p.Glu1200GlyVAR_018002
107FBN1p.Glu1325GlnVAR_018003
108FBN1p.Ala1337ProVAR_018004
109FBN1p.Cys1339TyrVAR_018005
110FBN1p.Glu1366LysVAR_018006
111FBN1p.Cys1374SerVAR_018007
112FBN1p.Cys1389ArgVAR_018008
113FBN1p.Pro1424AlaVAR_018010
114FBN1p.Cys1429SerVAR_018011
115FBN1p.Cys1564TyrVAR_018013
116FBN1p.Cys1770PheVAR_018015
117FBN1p.Arg1790ProVAR_018016
118FBN1p.Cys1791TyrVAR_018017
119FBN1p.Cys1793TrpVAR_018018
120FBN1p.Gly1796GluVAR_018019
121FBN1p.Cys1806SerVAR_018020
122FBN1p.Cys1835TyrVAR_018021rs111929350
123FBN1p.Ile1909ThrVAR_018022
124FBN1p.Arg1915SerVAR_018023
125FBN1p.Cys1971TyrVAR_018025
126FBN1p.Cys1977TyrVAR_018026
127FBN1p.Cys1998TyrVAR_018027
128FBN1p.Cys2111ArgVAR_018029rs363815
129FBN1p.Cys2221GlyVAR_018031
130FBN1p.Asn2223HisVAR_018032
131FBN1p.Ile2269ThrVAR_018033
132FBN1p.Arg2335TrpVAR_018034
133FBN1p.Cys2406TyrVAR_018036
134FBN1p.Cys2442TrpVAR_018037
135FBN1p.Tyr2474CysVAR_018038
136FBN1p.Cys2581PheVAR_018039
137FBN1p.Ile2585ThrVAR_018040
138FBN1p.Gly2618ArgVAR_018041rs141133182
139FBN1p.Asn2624LysVAR_018042
140FBN1p.Cys2652GlyVAR_018043
141FBN1p.Gly2668CysVAR_018044
142FBN1p.Gly985GluVAR_018319rs137854477
143FBN1p.Cys1265ArgVAR_018320rs137854474
144FBN1p.Tyr20CysVAR_023859
145FBN1p.Cys123TyrVAR_023860
146FBN1p.Cys177ArgVAR_023861rs363853
147FBN1p.Cys224ArgVAR_023862
148FBN1p.Arg439GlyVAR_023863
149FBN1p.Cys541TyrVAR_023865
150FBN1p.Cys628LysVAR_023866
151FBN1p.Tyr635CysVAR_023868
152FBN1p.Arg636IleVAR_023869
153FBN1p.Cys781TyrVAR_023870
154FBN1p.Cys832TyrVAR_023871
155FBN1p.Cys890GlyVAR_023872
156FBN1p.Gly1058AspVAR_023873
157FBN1p.Asp1113ValVAR_023874
158FBN1p.Cys1153SerVAR_023875
159FBN1p.Tyr1219CysVAR_023877
160FBN1p.Tyr1261AspVAR_023878
161FBN1p.Cys1278SerVAR_023879
162FBN1p.Cys1284GlyVAR_023880
163FBN1p.Cys1333SerVAR_023881
164FBN1p.Cys1402ArgVAR_023882
165FBN1p.Pro1424SerVAR_023883
166FBN1p.Gly1475GluVAR_023884
167FBN1p.Gly1475SerVAR_023885
168FBN1p.Cys1564PheVAR_023886
169FBN1p.Met1576ThrVAR_023887
170FBN1p.Cys1631GlyVAR_023888
171FBN1p.Cys1663TyrVAR_023889
172FBN1p.Cys1791ArgVAR_023890
173FBN1p.Cys1806TyrVAR_023891
174FBN1p.Cys1876TyrVAR_023892rs112728248
175FBN1p.Thr1887IleVAR_023893
176FBN1p.Cys1895ArgVAR_023894
177FBN1p.Cys1900TyrVAR_023895
178FBN1p.Cys1928GlyVAR_023896
179FBN1p.Cys1928TyrVAR_023897
180FBN1p.Cys2038TyrVAR_023898rs363804
181FBN1p.Cys2085ArgVAR_023899
182FBN1p.Ala2160ProVAR_023900
183FBN1p.Cys2221PheVAR_023901
184FBN1p.Cys2251ArgVAR_023902rs112836174
185FBN1p.Ala2385ThrVAR_023903
186FBN1p.Cys2500ArgVAR_023904
187FBN1p.Cys2500TyrVAR_023905
188FBN1p.Cys2535TrpVAR_023906rs113544411
189FBN1p.Gly2536ArgVAR_023907
190FBN1p.Glu2570LysVAR_023908
191FBN1p.Cys2571ArgVAR_023909
192FBN1p.Cys2592SerVAR_023910
193FBN1p.Cys2605ArgVAR_023911
194FBN1p.Cys2605TyrVAR_023912
195FBN1p.Tyr2629CysVAR_023914
196FBN1p.Cys2663SerVAR_023915
197FBN1p.Cys1068GlyVAR_064503
198FBN1p.Cys80GlyVAR_065981
199FBN1p.Cys499TyrVAR_065982
200FBN1p.Cys611ArgVAR_065983
201FBN1p.Cys617GlyVAR_065984
202FBN1p.Cys685TyrVAR_065985
203FBN1p.Cys790TyrVAR_065986
204FBN1p.Cys811TyrVAR_065987
205FBN1p.Cys853SerVAR_065988
206FBN1p.Cys926TyrVAR_065989
207FBN1p.Pro1090SerVAR_065990
208FBN1p.Gly1185AspVAR_065991
209FBN1p.Cys1284TyrVAR_065992
210FBN1p.Cys1350PheVAR_065993
211FBN1p.Thr1401AlaVAR_065994
212FBN1p.Cys1431TrpVAR_065995rs112375043
213FBN1p.Cys1431TyrVAR_065996
214FBN1p.Asp1487AlaVAR_065998
215FBN1p.Asn1489LysVAR_065999
216FBN1p.Gly1838CysVAR_066000
217FBN1p.Cys1934SerVAR_066001
218FBN1p.Glu1976GlyVAR_066002
219FBN1p.Cys1984ArgVAR_066003
220FBN1p.Asp2166AsnVAR_066004
221FBN1p.Ile2185ThrVAR_066005
222FBN1p.Asp2247GlyVAR_066006
223FBN1p.Cys2318ArgVAR_066007rs111588631
224FBN1p.Cys2442SerVAR_066008
225FBN1p.Cys2646ArgVAR_066010

Clinvar genetic disease variations for Marfan Syndrome:

1 (show all 77)
id Gene Name Type Significance SNP ID Assembly Location
1BCKDHANM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn)single nucleotide variantPathogenicrs137852870GRCh37Chr 19, 41930487: 41930487
2BCKDHBNM_000056.3(BCKDHB): c.548G> C (p.Arg183Pro)single nucleotide variantPathogenicrs79761867GRCh37Chr 6, 80878662: 80878662
3LTBP2NM_000428.2(LTBP2): c.1642C> T (p.Arg548Ter)single nucleotide variantPathogenicrs137854855GRCh37Chr 14, 75017811: 75017811
4FBN1NM_000138.4(FBN1): c.385T> G (p.Cys129Gly)single nucleotide variantPathogenicrs199474693GRCh38Chr 15, 48600196: 48600196
5FBN1FBN1, 366-BP DELdeletionPathogenic
6FBN1NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs267606796GRCh37Chr 15, 48703535: 48703535
7FBN1NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser)single nucleotide variantPathogenicrs137854458GRCh37Chr 15, 48776107: 48776107
8FBN1NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg)single nucleotide variantPathogenicrs137854459GRCh37Chr 15, 48756174: 48756174
9FBN1NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser)single nucleotide variantPathogenicrs137854460GRCh37Chr 15, 48725140: 48725140
10FBN1NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr)single nucleotide variantPathogenicrs137854470GRCh37Chr 15, 48779622: 48779622
11FBN1NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr)single nucleotide variantPathogenicrs137854471GRCh37Chr 15, 48776128: 48776128
12FBN1NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter)single nucleotide variantPathogenicrs267606797GRCh37Chr 15, 48729559: 48729559
13FBN1NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser)single nucleotide variantPathogenicrs137854461GRCh37Chr 15, 48729223: 48729223
14FBN1NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile)single nucleotide variantPathogenicrs137854462GRCh37Chr 15, 48802312: 48802312
15FBN1NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala)single nucleotide variantPathogenicrs137854463GRCh37Chr 15, 48789588: 48789588
16FBN1FBN1, 83-BP DELdeletionPathogenic
17FBN1FBN1, IVS54DS, G-C, +1, 123-BP DELdeletionPathogenic
18FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
19FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
20FBN1NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser)single nucleotide variantPathogenic, Uncertain significancers137854468GRCh37Chr 15, 48779593: 48779593
21FBN1NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
22FBN1FBN1, 1-BP DEL, 3192AdeletionPathogenic
23FBN1NM_000138.4(FBN1): c.6354C> T (p.Ile2118=)single nucleotide variantLikely pathogenic, Pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
24FBN1NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg)single nucleotide variantPathogenicrs137854474GRCh37Chr 15, 48776060: 48776060
25FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
26FBN1FBN1, IVS2DS, G-A, +1single nucleotide variantPathogenic
27FBN1NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
28FBN1FBN1, 33-BP INS, IVS46, G-A, +1insertionPathogenic
29FBN1FBN1, IVS46+5G-Asingle nucleotide variantPathogenic
30FBN1NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys)single nucleotide variantPathogenicrs137854479GRCh37Chr 15, 48789495: 48789495
31FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
32FBN1NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr)single nucleotide variantPathogenicrs137854482GRCh37Chr 15, 48779586: 48779586
33FBN1NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr)single nucleotide variantPathogenicrs137854483GRCh37Chr 15, 48777621: 48777621
34FBN1FBN1, 302.5-KB DELdeletionPathogenic
35FBN1NM_000138.4: c.1469-?_6037+?deldeletionPathogenic
36FBN1NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp)single nucleotide variantLikely pathogenic, Pathogenicrs140603GRCh37Chr 15, 48796042: 48796042
37FBN1NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys)single nucleotide variantPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
38FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
39FBN1NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys)single nucleotide variantLikely pathogenic, Pathogenicrs147195031GRCh37Chr 15, 48712977: 48712977
40FBN1NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs)deletionPathogenicrs398122831GRCh37Chr 15, 48704836: 48704837
41FBN1NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs)deletionPathogenicrs398122832GRCh37Chr 15, 48704817: 48704836
42FBN1NM_000138.4(FBN1): c.8226+1G> Tsingle nucleotide variantPathogenicrs398122833GRCh37Chr 15, 48704765: 48704765
43FBN1NM_000138.4(FBN1): c.4253_4259delGCCAGTG (p.Gly1418Alafs)deletionPathogenicrs398122934GRCh37Chr 15, 48764825: 48764831
44FBN1NM_000138.4(FBN1): c.1051C> T (p.Gln351Ter)single nucleotide variantPathogenicrs397515753GRCh37Chr 15, 48812952: 48812952
45FBN1NM_000138.4(FBN1): c.1192A> T (p.Arg398Ter)single nucleotide variantPathogenicrs397515754GRCh37Chr 15, 48808515: 48808515
46FBN1NM_000138.4(FBN1): c.1148-2A> Gsingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
47FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
48FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
49FBN1NM_000138.4(FBN1): c.184C> T (p.Arg62Cys)single nucleotide variantPathogenicrs25403GRCh37Chr 15, 48905270: 48905270
50FBN1NM_000138.4(FBN1): c.2341T> C (p.Cys781Arg)single nucleotide variantPathogenicrs397515766GRCh37Chr 15, 48788375: 48788375
51FBN1NM_000138.4(FBN1): c.2407A> T (p.Lys803Ter)single nucleotide variantPathogenicrs397515768GRCh37Chr 15, 48788309: 48788309
52FBN1NM_000138.4(FBN1): c.2412_2413delAT (p.Cys805Terfs)deletionPathogenicrs397515769GRCh37Chr 15, 48788303: 48788304
53FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
54FBN1NM_000138.4(FBN1): c.2855-1G> Asingle nucleotide variantPathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
55FBN1NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr)single nucleotide variantPathogenicrs397515786GRCh37Chr 15, 48780609: 48780609
56FBN1NM_000138.4(FBN1): c.3274delG (p.Asp1092Thrfs)deletionPathogenicrs397515788GRCh37Chr 15, 48780373: 48780373
57FBN1NM_000138.4(FBN1): c.3463+1G> Tsingle nucleotide variantPathogenicrs397515792GRCh37Chr 15, 48779508: 48779508
58FBN1NM_000138.4(FBN1): c.368G> A (p.Cys123Tyr)single nucleotide variantPathogenicrs397515794GRCh37Chr 15, 48892410: 48892410
59FBN1NM_000138.4(FBN1): c.4222T> C (p.Cys1408Arg)single nucleotide variantPathogenicrs397515802GRCh37Chr 15, 48764862: 48764862
60FBN1NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala)single nucleotide variantPathogenicrs201273753GRCh37Chr 15, 48764814: 48764814
61FBN1NM_000138.4(FBN1): c.4367G> C (p.Cys1456Ser)single nucleotide variantPathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
62FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
63FBN1NM_000138.4(FBN1): c.493C> T (p.Arg165Ter)single nucleotide variantPathogenicrs113905529GRCh37Chr 15, 48888525: 48888525
64FBN1NM_000138.4(FBN1): c.4955G> A (p.Cys1652Tyr)single nucleotide variantPathogenicrs397515817GRCh37Chr 15, 48756206: 48756206
65FBN1NM_000138.4(FBN1): c.5066-1G> Csingle nucleotide variantPathogenicrs397515819GRCh37Chr 15, 48755438: 48755438
66FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
67FBN1NM_000138.4(FBN1): c.5512G> T (p.Gly1838Cys)single nucleotide variantPathogenicrs397515823GRCh37Chr 15, 48744792: 48744792
68FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
69FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
70FBN1NM_000138.4(FBN1): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
71FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
72FBN1NM_000138.4(FBN1): c.7180C> T (p.Arg2394Ter)single nucleotide variantPathogenicrs397515848GRCh37Chr 15, 48719788: 48719788
73FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
74FBN1NM_000138.4(FBN1): c.8267G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs397515861GRCh37Chr 15, 48703536: 48703536
75FBN1NM_000138.4(FBN1): c.958dupT (p.Tyr320Leufs)duplicationPathogenicrs397515867GRCh37Chr 15, 48818356: 48818357
76BCKDHBNM_000056.3(BCKDHB): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
77BCKDHBNM_000056.3(BCKDHB): c.832G> A (p.Gly278Ser)single nucleotide variantPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740

Expression for genes affiliated with Marfan Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

About this section
Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 13EMD Millipore, 31KEGG, 54QIAGEN, 55R&D Systems, 62Tocris Bioscience, 5Cell Signaling Technology, 58SinoBiological
See all sources

Pathways related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5ELN, FBN1
29.4COL1A2, DCN
3
Show member pathways
9.3ELN, COL1A2
49.3COL1A2, ELN
59.1TGFBR2, TGFBR1
69.1TGFBR2, TGFBR1
7
Show member pathways
Signal transduction PTEN pathway61
9.1TGFBR2, TGFBR1
8
Show member pathways
9.1TGFBR2, TGFBR1
99.1TGFBR1, TGFBR2
10
Show member pathways
9.1TGFBR2, TGFBR1
119.1TGFBR1, TGFBR2
129.1TGFBR2, TGFBR1
13
Show member pathways
9.1TGFBR1, TGFBR2
14
Show member pathways
9.1TGFBR2, TGFBR1
15
Show member pathways
9.1TGFBR2, TGFBR1
16
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation61
9.1TGFBR2, TGFBR1
17
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.1TGFBR2, TGFBR1
189.1TGFBR2, TGFBR1
199.1TGFBR1, TGFBR2
209.1TGFBR2, TGFBR1
219.1TGFBR1, TGFBR2
229.1TGFBR2, TGFBR1
23
Show member pathways
ALK1 pathway39
9.1TGFBR1, TGFBR2
249.1TGFBR1, TGFBR2
25
Show member pathways
9.1TGFBR1, TGFBR2
26
Show member pathways
9.1TGFBR2, TGFBR1
27
Show member pathways
8.7TGFBR2, TGFBR1, DCN
288.7TGFBR2, TGFBR1, DCN
29
Show member pathways
8.5FBN1, DCN, ELN, COL1A2
30
Show member pathways
8.1FBN1, TGFBR1, ELN, COL1A2
31
Show member pathways
7.6FBN1, TGFBR1, TGFBR2, ELN, COL1A2
32
Show member pathways
7.6COL1A2, ELN, TGFBR2, TGFBR1, FBN1

Compounds for genes affiliated with Marfan Syndrome

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank, 3BitterDB, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
See all sources

Compounds related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1taad4610.0TGFBR2, FBN1
2desmosine4610.0ELN, FBN1
3orcein469.9FBN1, ELN
4cacl2469.9FBN1, ELN
5dermatan46 2510.9DCN, ELN
6keratan sulfate469.8DCN, ELN
7alginate469.8DCN, ELN
8rsai469.8COL1A2, FBN1
9dermatan sulfate469.8DCN, ELN
10guanidine hydrochloride469.7ELN, DCN
11cyanogen bromide469.7ELN, COL1A2
12amine469.7ELN, FBN1
13glycosaminoglycan469.6DCN, ELN
14hydroxyproline46 25 1211.5FBN1, DCN, ELN
15chondroitin sulfate46 2510.5FBN1, DCN, ELN
16biotin46 25 1211.5TGFBR2, DCN
17sodium dodecylsulfate469.5FBN1, DCN, ELN
18hyaluronic acid46 2510.5ELN, FBN1, DCN
19heparan sulfate46 2510.5ELN, DCN, FBN1
20bleomycin46 1210.4DCN, TGFBR2, ELN
21lysine469.4ELN, DCN, FBN1
22procollagen469.3ELN, COL1A2, DCN
23chloramphenicol46 3 52 1212.2ELN, DCN, COL1A2
24aspartate469.1COL1A2, ELN, DCN
25arginine469.0ELN, DCN, FBN1
26paraffin469.0DCN, ELN, TGFBR1
27genistein46 30 62 3 25 1214.0TGFBR1, DCN, ELN
28manganese46 2510.0ELN, TGFBR2, TGFBR1
29glutamate468.9ELN, DCN, FBN1, TGFBR2
30progesterone46 30 62 25 1212.9TGFBR1, TGFBR2, FBN1
31vitamin d468.8COL1A2, ELN, TGFBR2, FBN1
32cycloheximide468.8TGFBR1, ELN, TGFBR2
33ly294002468.8TGFBR1, TGFBR2, COL1A2
34magnesium46 25 1210.8TGFBR1, TGFBR2, ELN
35heparin46 30 25 1211.7ELN, FBN1, DCN, TGFBR1
36dexamethasone46 52 30 1211.5TGFBR2, ELN, TGFBR1, DCN
37vegf468.5ELN, DCN, TGFBR1, TGFBR2
38ribonucleic acid468.5DCN, TGFBR1, TGFBR2, COL1A2
39oligonucleotide468.4TGFBR2, TGFBR1, COL1A2, DCN
40calcium46 52 25 1211.4COL1A2, TGFBR2, ELN, FBN1
41nitric oxide46 25 1210.4DCN, TGFBR1, TGFBR2
42cysteine468.4TGFBR2, ELN, FBN1, COL1A2, DCN
43tgf beta1468.2FBN1, TGFBR1, TGFBR2, ELN, DCN
44alanine468.2ELN, TGFBR2, TGFBR1, DCN, FBN1
45retinoic acid46 259.2ELN, TGFBR1, DCN, FBN1, TGFBR2
46tyrosine468.0DCN, TGFBR1, COL1A2, TGFBR2, FBN1
47estrogen467.6TGFBR2, COL1A2, ELN, TGFBR1, DCN, FBN1
48serine467.6ELN, FBN1, TGFBR2, TGFBR1, DCN, COL1A2

GO Terms for genes affiliated with Marfan Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Marfan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.1TGFBR1, TGFBR2
2receptor complexGO:0432359.1TGFBR2, TGFBR1
3extracellular matrixGO:0310128.9FBN1, DCN, COL1A2
4extracellular regionGO:0055768.2FBN1, DCN, ELN, COL1A2

Biological processes related to Marfan Syndrome according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue developmentGO:0075199.6DCN, ELN
2response to mechanical stimulusGO:0096129.6TGFBR2, DCN
3blood vessel developmentGO:0015689.5COL1A2, TGFBR2
4agingGO:0075689.5TGFBR2, DCN
5response to cholesterolGO:0707239.4TGFBR2, TGFBR1
6pathway-restricted SMAD protein phosphorylationGO:0603899.4TGFBR1, TGFBR2
7lens development in camera-type eyeGO:0020889.4TGFBR2, TGFBR1
8embryonic cranial skeleton morphogenesisGO:0487019.4TGFBR2, TGFBR1
9peptidyl-threonine phosphorylationGO:0181079.4TGFBR1, TGFBR2
10collagen fibril organizationGO:0301999.2COL1A2, TGFBR1
11peptidyl-serine phosphorylationGO:0181059.2TGFBR2, TGFBR1
12organ morphogenesisGO:0098879.2ELN, DCN
13negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.1TGFBR1, TGFBR2
14kidney developmentGO:0018229.1DCN, FBN1, TGFBR1
15palate developmentGO:0600219.0TGFBR1, TGFBR2
16wound healingGO:0420609.0TGFBR2, TGFBR1, DCN
17heart developmentGO:0075079.0TGFBR1, TGFBR2, FBN1
18skeletal system developmentGO:0015018.9TGFBR1, FBN1, COL1A2
19transforming growth factor beta receptor signaling pathwayGO:0071798.8TGFBR2, COL1A2, TGFBR1
20extracellular matrix disassemblyGO:0226178.8ELN, COL1A2, DCN, FBN1
21extracellular matrix organizationGO:0301988.8FBN1, DCN, ELN, COL1A2

Molecular functions related to Marfan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.5ELN, DCN
2glycosaminoglycan bindingGO:0055399.2DCN, TGFBR2
3transforming growth factor beta-activated receptor activityGO:0050249.1TGFBR2, TGFBR1
4transforming growth factor beta bindingGO:0504319.0TGFBR2, TGFBR1
5extracellular matrix structural constituentGO:0052019.0COL1A2, ELN, FBN1
6SMAD bindingGO:0463328.6COL1A2, TGFBR1, TGFBR2

Products for genes affiliated with Marfan Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Marfan Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet